Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0234861
Disease: Cri du chat
Cri du chat 		3 0 2 8.7E-02 0 0
CUI: C1834975
Disease: Irregular acetabular roof
Irregular acetabular roof 		3 0 2 8.7E-02 0 0
CUI: C1970112
Disease: Aplasia cutis congenita over the scalp vertex
Aplasia cutis congenita over the scalp vertex 		3 0 2 8.7E-02 0 0
CUI: C3552156
Disease: Hypoplasia of the semicircular canal
Hypoplasia of the semicircular canal 		3 0 2 8.7E-02 0 0
CUI: C4021984
Disease: Abnormal soft palate morphology
Abnormal soft palate morphology 		3 0 2 8.7E-02 0 0
CUI: C0034895
Disease: Rectovaginal Fistula
Rectovaginal Fistula 		17 0 3 8.3E-02 0 0
CUI: C1389851
Disease: Parathyroid hypoplasia
Parathyroid hypoplasia 		4 0 2 8.3E-02 0 0
CUI: C1837826
Disease: Coloboma of inferior eyelid
Coloboma of inferior eyelid 		4 0 2 8.3E-02 0 0
CUI: C1858395
Disease: Tubular atrophy
Tubular atrophy 		17 0 3 8.3E-02 0 0
CUI: C2936502
Disease: Familial CHARGE Syndrome
Familial CHARGE Syndrome 		4 0 2 8.3E-02 0 0
CUI: C4021756
Disease: Thickened superior cerebellar peduncle
Thickened superior cerebellar peduncle 		4 0 2 8.3E-02 0 0
CUI: C4023824
Disease: Bifid femur
Bifid femur 		4 0 2 8.3E-02 0 0
CUI: C4521759
Disease: Tubular Atrophy Assessment
Tubular Atrophy Assessment 		17 0 3 8.3E-02 0 0
CUI: C0685840
Disease: Congenital hypoplasia of ovary
Congenital hypoplasia of ovary 		44 0 5 8.2E-02 0 0
CUI: C0266614
Disease: Bat ear
Bat ear 		5 0 2 8.0E-02 0 0
CUI: C0546952
Disease: Congenital facial asymmetry
Congenital facial asymmetry 		5 0 2 8.0E-02 0 0
CUI: C1868139
Disease: Medullary cystic kidney disease 1
Medullary cystic kidney disease 1 		5 0 2 8.0E-02 0 0
CUI: C4025810
Disease: Abnormal palmar dermatoglyphics
Abnormal palmar dermatoglyphics 		5 0 2 8.0E-02 0 0
CUI: C4551559
Disease: Senior-Loken Syndrome 1
Senior-Loken Syndrome 1 		5 0 2 8.0E-02 0 0
CUI: C0037231
Disease: Sjogren-Larsson Syndrome
Sjogren-Larsson Syndrome 		20 0 3 7.7E-02 0 0
CUI: C2673597
Disease: Congenital localized absence of skin
Congenital localized absence of skin 		6 0 2 7.7E-02 0 0
CUI: C4023796
Disease: Aplasia/Hypoplasia of the thymus
Aplasia/Hypoplasia of the thymus 		6 0 2 7.7E-02 0 0
CUI: C1843005
Disease: Absent eyelashes
Absent eyelashes 		21 0 3 7.5E-02 0 0
CUI: C1850325
Disease: Labial hypoplasia
Labial hypoplasia 		7 0 2 7.4E-02 0 0
CUI: C1832127
Disease: Square face
Square face 		8 0 2 7.1E-02 0 0